A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.

ABSTRACT:

Background

WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regulator and target of the canonical WNT signaling pathway. Germline mutations in AXIN2 are associated with absence of permanent teeth (hypo- and oligodontia) and predisposition to gastrointestinal polyps and cancer. The limited number of patients makes an accurate genotype-phenotype analysis currently challenging.

Case presentation

We present the case of a 55-year-old male with colorectal polyposis and hypodontia. Genetic testing confirmed a novel frameshift germline mutation in exon

SUBMITTER: Broekema MF 

PROVIDER: S-EPMC10464116 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature